Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration (Q38423796)

From Wikidata

Jump to navigation Jump to search

The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

scientific article published on July 2015

Language	Label	Description	Also known as
English	Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration	scientific article published on July 2015

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration (English)

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

author name string

Daniela Ferrara

1

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

Johanna M Seddon

2

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

language of work or name

0 references

publication date

1 July 2015

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

number of pages

7

1 reference

based on heuristic

inferred from page(s)

JAMA Ophthalmology

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

133

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

7

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

785-791

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement factor H variant increases the risk of age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement factor H polymorphism in age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Membranoproliferative glomerulonephritis type II (dense deposit disease): an update

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of the clinical age-related maculopathy staging system

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extension of the rank sum test for clustered data: two-group comparisons with group membership defined at the subunit level

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in complement factor 3 is associated with risk of age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation near complement factor I is associated with risk of advanced AMD

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of phenotypes caused by variants in the CFH gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and significance of subretinal drusenoid deposits (reticular pseudodrusen) in age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Grading diabetic retinopathy from stereoscopic color fundus photographs--an extension of the modified Airlie House classification. ETDRS report number 10. Early Treatment Diabetic Retinopathy Study Research Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven new loci associated with age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cuticular drusen: stars in the sky.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progress on retinal image analysis for age related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nature and nurture- genes and environment- predict onset and progression of macular degeneration.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variants in the complement system predisposing to age-related macular degeneration: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult vitelliform macular detachment occurring in patients with basal laminar drusen

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/25880396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1001/JAMAOPHTHALMOL.2015.0814

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

30 June 2019

http://europepmc.org/abstract/PMC/6516461

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q38423796&oldid=1785933535"